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rs111723244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111723244(A;A)
Make rs111723244(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position12004615
GeneMFN2
is asnp
is mentioned by
dbSNPrs111723244
dbSNP (classic)rs111723244
ClinGenrs111723244
ebirs111723244
HLIrs111723244
Exacrs111723244
Gnomadrs111723244
Varsomers111723244
LitVarrs111723244
Maprs111723244
PheGenIrs111723244
Biobankrs111723244
1000 genomesrs111723244
hgdprs111723244
ensemblrs111723244
geneviewrs111723244
scholarrs111723244
googlers111723244
pharmgkbrs111723244
gwascentralrs111723244
openSNPrs111723244
23andMers111723244
SNPshotrs111723244
SNPdbers111723244
MSV3drs111723244
GWAS Ctlgrs111723244
Max Magnitude0
ClinVar
Risk rs111723244(A;A) rs111723244(C;C)
Alt rs111723244(A;A) rs111723244(C;C)
Reference Rs111723244(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12064672T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023713.4,